International Journal of Medical Advances and Discoveries

ISSN 2756-3812

International Journal of Medical Advances and Discovery ISSN 2756-3812 Vol. 2 (1), pp. 001-004, January, 2011. © International Scholars Journals

Case Report

Pyknodysostosis with hearing impairment: A case report

Mohd Ashraf1, Arshad Farooq1, Tasaduq Ahmad1, Mohmmad Himayun1 and Khurshed A Wani2

1Sher-i-Kashmir Institute of Medical Sciences (SKIMS) Medical College, and 2Govt. Medical College (GMC) Srinagar.

Accepted 03 November, 2010

Abstract

Pyknodysostosis is a rare seclerosing bone disease that has autosomal recessive trait. It is characterized by small stature, diffuse osteosclerosis with tendency to transverse fractures, acro-osteolysis of fingers, with flattened and grooved nails. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses and obtuse mandibular gonial angle with relative mandibular prognathism. We report a 9-year-old girl having features of pyknodysostosis with progressive hearing impairment, in the form of otosclerosis.

Keywords: Craniofacial abnormalities, hearing impairment, otosclerosis, pyknodysostosis, seclerosing bone diseases.


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Mohmmad Himayun and Khurshed A Wani on Google Scholar Mohmmad Himayun and Khurshed A Wani on Pubmed Mohd Ashraf on Google Scholar Mohd Ashraf on Pubmed Tasaduq Ahmad on Google Scholar Tasaduq Ahmad on Pubmed Arshad Farooq on Google Scholar Arshad Farooq on Pubmed